ReviewOrphanet journal of rare diseases2020
Non-deletional alpha thalassaemia: a review.
Review in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 66 citations in OpenAlex.
- Phenotypic and Genotypic Analysis of Two Rare Cases of --Journal of clinical laboratory analysis · 2026Article
- A clinical triage score for MLPA testing in children with microcytosis suspected of deletional alpha-thalassemia.European journal of pediatrics · 2026Article
- Successful gene therapy for transfusion-dependent α-thalassemia: a case report.Blood advances · 2026Article
- Article
- Hb Thessaloniki, a Novel, Hyperunstable, Alpha Globin Variant Detected in Northern Greece.Hematology reports · 2026Article
- Article
- Genotype-phenotype correlation in alpha-thalassemia: predicting genetic subgroups via laboratory parameters.Frontiers in medicine · 2026Article
- Longstanding Microcytosis with a Thalassaemia-Like Phenotype and Inconclusive Molecular Testing: A Case Report.Journal of blood medicine · 2026Article
- A comparative study of SNPscan/CNVplex assay and routine PCR in genetic analysis of thalassemia.Frontiers in genetics · 2026Article
- Revisiting hemoglobin constant spring: molecular insights, pathophysiological mechanisms, and clinical perspectives.Orphanet journal of rare diseases · 2025Review
- Snrnp25 is a candidate for the peri-implantation lethal phenotype of the Hba deletions.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
- The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience.Diagnostics (Basel, Switzerland) · 2025Article
- Comprehensive analysis of a-and b-thalassemia genotypes and hematologic phenotypes.Journal of medical biochemistry · 2025Article
- Article
- Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.International journal of general medicine · 2025Article
- Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.Frontiers in immunology · 2025Article
- Article
- A rare hemoglobinopathy duo: Hb Adana×Hb SEA in a 1-year-old patient - a case report and a brief literature review.Annals of medicine and surgery (2012) · 2024Article
- Uncommon Combination of Hemoglobin Jax and Hemoglobin Constant Spring Leading to Microcytic Anemia.The American journal of case reports · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDefective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results in the most severe phenotype known as haemoglobin Bart's, which leads to intrauterine death. The presence of one functional alpha gene is associated with haemoglobin H disease, characterised by non-transfusion-dependent thalassaemia phenotype, while silent and carrier traits are mostly asymptomatic. MAIN BODY: Clinical manifestations of non-deletional in alpha thalassaemia are varied and have more severe phenotype compared to deletional forms of alpha thalassaemia. Literature for the molecular mechanisms of common non-deletional alpha thalassaemia including therapeutic measures that are necessarily needed for the understanding of these disorders is still in demand. This manuscript would contribute to the better knowledge of how defective production of the α-globin chains due to mutations on the alpha-globin genes and/or the regulatory elements leads to alpha thalassaemia syndrome.
conclusionSince many molecular markers are associated with the globin gene expression and switching over during the developmental stages, there is a need for increased awareness, new-born and prenatal screening program, especially for countries with high migration impact, and for improving the monitoring of patients with α-thalassaemia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.